A novel variation in the Twinkle linker region causing late-onset dementia

Clinical diagnosis of Alzheimer's disease

Guy M. McKhann, David A. Drachman, Marshall Folstein et al. · Neurology · 1984 · 28K citations · Full text

Medicine, Geriatric Medicine, Neurology +16

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

Steven G. Pavlakis, Peter C. Phillips∥, Salvatore DiMauro et al. · Annals of Neurology · 1984 · 1.2K citations

Life Sciences, Neurology, Neuroscience +17

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

Johannes N. Spelbrink, Fang-Yuan Li, Valeria Tiranti et al. · Nature Genetics · 2001 · 882 citations

Life Sciences, Genetics, Molecular Genetics +12

Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice

Henna Tyynismaa, Katja Peltola Mjøsund, Sjoerd Wanrooij et al. · Proceedings of the National Academy of Sciences · 2005 · 335 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia.

Anu Suomalainen, Anna Majander, Matti Haltia et al. · Journal of Clinical Investigation · 1992 · 242 citations · Full text

Life Sciences, Genetics, Ophthalmology +16